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Chromosomale und nicht-chromosomale Syndrome

  • Sevgi Tercanli
  • Peter Miny
Chapter

Zusammenfassung

Die Rate an schweren angeborenen fetalen Fehlbildungen liegt bei bis zu ca. 6–7 %. Hierbei handelt es sich entweder um isolierte Befunde oder eine Kombination von Anomalien wie Syndromen, Sequenzen und Assoziationen (Spranger et al. 2006).

Literatur

  1. ACOG Committee Opinion No. 446 (2009) Array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 114(5):1161–1163CrossRefGoogle Scholar
  2. ACOG Practice Bulletin No. 77 (2007) Screening for fetal chromosomal abnormalities. American College of Obstetricians and Gynecologists. Obstet Gynecol 109:217CrossRefGoogle Scholar
  3. Benacerraf BR (2005) The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol 29:386–394CrossRefGoogle Scholar
  4. Benacerraf BR, Frigoletto Jr FD (1987) Soft tissue nuchal fold in the second trimester fetus: standards for normal measurements compared to the fetus with Down syndrome. Am J Obstet Gynecol 157:1146–1149CrossRefPubMedPubMedCentralGoogle Scholar
  5. Benacerraf BR, Laboda LA, Frigoletto Jr FD (1992) Thickened nuchal fold in fetuses not at risk for aneuploidy. Radiology 184:239–242CrossRefGoogle Scholar
  6. Bromley B, Lieberman E, Shipp TD et al (2002) Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 21:1387–1394CrossRefGoogle Scholar
  7. Bromley B, Lieberman E, Shipp TD et al (2002) The genetic sonogram, a method for risk assessment for Down syndrome in the mid trimester. J Ultrasound Med 21:1087–1096CrossRefGoogle Scholar
  8. Friedman JM (2009) High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 29(1):20–28CrossRefGoogle Scholar
  9. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD (2011) Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 37(1):6–14CrossRefPubMedGoogle Scholar
  10. Kalter H, Warkany J (1983) Congenital malformations. Etiologic factors and their role in prevention. N Engl J Med 308:491–497CrossRefPubMedGoogle Scholar
  11. Lichtenbelt KD, Knoers NVAM, Schuring-Blom GH (2011) From Karyotyping to Array-CGH in Prenatal Diagnosis. Cytogenet Genome Res 135:241–250CrossRefPubMedGoogle Scholar
  12. Martınez-Frıas ML, Bermejo E, Frıas JL (2000) Pathogenetic Classification of a Series of 27,145 Consecutive Infants With Congenital Defects. American Journal of Medical Genetics 90:246–249CrossRefPubMedGoogle Scholar
  13. Nyberg DA, Resta RG, Luthy DA, Hickok DE, Mahony BS, Hirsch JH (1990) Prenatal sonographic findings of Down syndrome: review of 94 cases. Obstet GynecolGoogle Scholar
  14. Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA (2001) Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 20:1053–1063CrossRefPubMedGoogle Scholar
  15. Queißer-Luft A, Spranger J (2006) Fehlbildungen bei Neugeborenen. Dtsch Arztebl 103(38):A2464–A2471Google Scholar
  16. Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man. 2. Aufl. Verlag Walter de GruyterGoogle Scholar
  17. Sheppard TH (1995) Katalog of teratogenic agens. John’s Hopkins University Press, , S. 65–368Google Scholar
  18. Smith-Bindman R, Chu P, Goldberg JD (2007) Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn 27:535–544CrossRefPubMedGoogle Scholar
  19. Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD (2001) Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 285(8):1044–1055CrossRefPubMedPubMedCentralGoogle Scholar
  20. Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW (1982) Errors in morphogenesis: Concepts and terms. J Pediatr 100:160–165CrossRefPubMedGoogle Scholar
  21. Ting YH, Lao TT, Lau TK, Chung MK, Leung TYJ (2011) Isolated absent or hypoplastic nasal bone in the second trimester fetus: is amniocentesis necessary? Matern Fetal Neonatal Med 24(4):555–558CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Sevgi Tercanli
    • 2
  • Peter Miny
    • 1
  1. 1.FrauenklinikUniversitätsspital BaselBaselSchweiz
  2. 2.Pränataldiagnostik und gynäkologischer UltraschallUltraschall Freie StrasseBaselSchweiz

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